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Clinical sequencing: is WGS the better WES?
Meienberg J, Bruggmann R, Oexle K, Matyas G. Meienberg J, et al. Hum Genet. 2016 Mar;135(3):359-62. doi: 10.1007/s00439-015-1631-9. Epub 2016 Jan 7. Hum Genet. 2016. PMID: 26742503 Free PMC article.
New insights into the performance of human whole-exome capture platforms.
Meienberg J, Zerjavic K, Keller I, Okoniewski M, Patrignani A, Ludin K, Xu Z, Steinmann B, Carrel T, Röthlisberger B, Schlapbach R, Bruggmann R, Matyas G. Meienberg J, et al. Nucleic Acids Res. 2015 Jun 23;43(11):e76. doi: 10.1093/nar/gkv216. Epub 2015 Mar 27. Nucleic Acids Res. 2015. PMID: 25820422 Free PMC article.
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.
Meienberg J, Rohrbach M, Neuenschwander S, Spanaus K, Giunta C, Alonso S, Arnold E, Henggeler C, Regenass S, Patrignani A, Azzarello-Burri S, Steiner B, Nygren AO, Carrel T, Steinmann B, Mátyás G. Meienberg J, et al. Eur J Hum Genet. 2010 Dec;18(12):1315-21. doi: 10.1038/ejhg.2010.105. Epub 2010 Jul 21. Eur J Hum Genet. 2010. PMID: 20648054 Free PMC article.
Need for speed in accurate whole-genome data analysis: GENALICE MAP challenges BWA/GATK more than PEMapper/PECaller and Isaac.
Plüss M, Kopps AM, Keller I, Meienberg J, Caspar SM, Dubacher N, Bruggmann R, Vogel M, Matyas G. Plüss M, et al. Among authors: meienberg j. Proc Natl Acad Sci U S A. 2017 Oct 3;114(40):E8320-E8322. doi: 10.1073/pnas.1713830114. Epub 2017 Sep 15. Proc Natl Acad Sci U S A. 2017. PMID: 28916731 Free PMC article. No abstract available.
Potential of whole-genome sequencing-based pharmacogenetic profiling.
Caspar SM, Schneider T, Stoll P, Meienberg J, Matyas G. Caspar SM, et al. Among authors: meienberg j. Pharmacogenomics. 2021 Feb;22(3):177-190. doi: 10.2217/pgs-2020-0155. Epub 2021 Feb 1. Pharmacogenomics. 2021. PMID: 33517770 Free article. Review.
14 results